Phenotype #0000201946

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00264103
Associated disease	RNS
Phenotype details	gestation 38w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, no thoracic hypoplasia, no pulmonary hypoplasia
Diagnosis/Initial	Raine syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RNS
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-09-11 13:01:03 +02:00 (CEST)
Date last edited	N/A

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